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Thorax 59:259-264 doi:10.1136/thx.2003.006502
  • Review series

α1-Antitrypsin deficiency · 2: Genetic aspects of α1-antitrypsin deficiency: phenotypes and genetic modifiers of emphysema risk

Table 2

Selected phenotype and genotype correlations

Alleles inherited Phenotype (e.g. isoelectric focusing) Serum level (e.g. nephelometry) Molecular genotype*** (e.g. allele specific hybridisation)
*Appears as PI MZ phenotype on AAT augmentation therapy.
**Appears as PI MSZ phenotype on AAT augmentation therapy, although multiple bands would make accurate phenotyping difficult.
***Current methods include using allele specific probes by hybridisation or introduction of a restriction enzyme digestion site that detects S or Z alleles.
MM M Normal Non-S, non-Z/non-S, non-Z
ZZ Z* Very low ZZ
Znull Z* Very low Z/non-S, non-Z
MZ MZ Intermediate Z/non-S, non-Z
Mnull M Intermediate Non-S, non-Z/non-S, non-Z
SZ SZ** Low SZ

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